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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **9301 - 9325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111594	distal arthrogryposis type 5D Aliases: DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia	ECEL1	9427	Homo sapiens (human)	Alliance of Genome Resources
DOID:2978	carbohydrate metabolic disorder Aliases: disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism	ACAT1 MPI OXCT1 TALDO1 TPI1	38 4351 5019 6888 7167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080095	myofibrillar myopathy 4 Aliases: zaspopathy	LDB3 PDLIM5 PDLIM7	10611 11155 9260	Homo sapiens (human)	Alliance of Genome Resources
DOID:363	uterine cancer Aliases: CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm	KLK10 L1CAM	3897 5655	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	SKIC2	6499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080547	metabolic dysfunction-associated steatohepatitis Aliases: MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis	ACACA ACER3 ADRA2A APOA1 AZGP1 CCL2 CCL5 CD68 CLDN1 COL1A1 CPT1A CYP27A1 CYP7A1 GPBAR1 HSPA5 HTR2B ICAM1 IL10 IL6 IRF5 KRT18 LEPR MC4R MLXIPL NFE2L2 NFKB1 NOX4 PCK1 PDGFRB RIPK3 SCD SERPINF1 SMAD4 SOD1 SOD2 SPHK2 SREBF1 TIMP1 TNF	11035 1277 1374 150 151306 1581 1593 31 3309 335 3357 3383 3569 3586 3663 3875 3953 4089 4160 4780 4790 50507 5105 51085 5159 5176 55331 563 56848 6319 6347 6352 6647 6648 6720 7076 7124 9076 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	SUMF1	285362	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	ACVR1 COL18A1 MYRF	745 80781 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome Aliases: CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate	NECTIN1	5818	Homo sapiens (human)	Alliance of Genome Resources
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110446	dilated cardiomyopathy 1W Aliases: CMD1W	VCL	7414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080837	growth hormone insensitivity syndrome with immune dysregulation 2	STAT5B	6777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A Aliases: MC5DN4A	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	ACKR3 CXCR4 KMT2C UBR5 XRCC1	51366 57007 58508 7515 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K Aliases: ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K	JPH1	56704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	POMGNT2	84892	Homo sapiens (human)	Alliance of Genome Resources
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	CTLA4 TSLP	1493 85480	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080015	physical disorder Aliases: congenital disorder	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110732	neuronal ceroid lipofuscinosis 11 Aliases: CLN11	GRN	2896	Homo sapiens (human)	Alliance of Genome Resources
DOID:37	skin disease Aliases: Genodermatosis skin and subcutaneous tissue disease	C1QTNF9 IL10 OTOL1 TNF	131149 338872 3586 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	DAXX MGMT PGF	1616 4255 5228	Homo sapiens (human)	Alliance of Genome Resources
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	FBN1 FBN2 FBN3 LTF SNRPA1 SNRPA SNRPB2 SNRPC SNRPD1	2200 2201 4057 6626 6627 6629 6631 6632 84467	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110266	cataract 9 multiple types Aliases: CTRCT9 cataract 9 multiple types with or without microcornea	CRYAA	1409	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	SPART	23111	Homo sapiens (human)	Alliance of Genome Resources

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